ClinVar

NM_001674.4(ATF3):c.436C>T (p.Leu146Phe)

Gene:

ATF3:activating transcription factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.3

Genomic location:

• Chr1: 212619445 (on Assembly GRCh38)
• Chr1: 212792787 (on Assembly GRCh37)

Preferred name:

NM_001674.4(ATF3):c.436C>T (p.Leu146Phe)

HGVS:

• NC_000001.11:g.212619445C>T
• NG_029871.1:g.59091C>T
• NM_001030287.4:c.436C>T
• NM_001040619.3:c.*340C>T
• NM_001206484.3:c.265C>T
• NM_001206486.2:c.*340C>T
• NM_001206488.3:c.265C>T
• NM_001674.4:c.436C>TMANE SELECT
• NP_001025458.1:p.Leu146Phe
• NP_001193413.2:p.Leu89Phe
• NP_001193417.2:p.Leu89Phe
• NP_001665.1:p.Leu146Phe
• NC_000001.10:g.212792787C>T
• NM_001674.3:c.436C>T

This HGVS expression did not pass validation

Protein change:

L146F

Molecular consequence:

• NM_001040619.3:c.*340C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001206486.2:c.*340C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001030287.4:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206484.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206488.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001674.4:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]